A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3364697



Internal ID19795675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42715446..42719680hg38UCSC Ensembl
chr21:44135556..44139790hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg384235
hg194235
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14661439
SamplesHG00268
Known GenesPDE9A
MethodSequencing
AnalysisRead and contig alignments were done with BLASR. The Celera assembler (8.3rc2) was used to assemble RS II samples (CHM1, CHM13, HG00514, HG00733, NA19240, HG02818, NA19434, HG01352, HG02059, NA12878, and HG04217, and Canu (1.7) was used for Sequel samples (HG02106 and HG00268). Variant calling was performed with SMRT-SV (10.1101/gr.214007.116).
PlatformPacBio RS II P6C4, PacBio Sequel v2.1
Comments
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3364697
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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